A complex chromosome rearrangement, der(6)ins(6)(p21.1q25.3q27)inv(6)(p25.3q27), in a child with cleidocranial dysplasia
| Autor: | Judy C. Hawkins, Lillian H. Lockhart, Reuben Matalon, Gopalrao V.N. Velagaleti, Jill K. Northup |
|---|---|
| Rok vydání: | 2011 |
| Předmět: |
Core Binding Factor Alpha 1 Subunit
Chromosomal rearrangement Biology Genetics medicine Humans In Situ Hybridization Fluorescence Genetics (clinical) Chromosomal inversion Chromosome Aberrations Comparative Genomic Hybridization Bacterial artificial chromosome medicine.diagnostic_test Infant Chromosome Karyotype General Medicine Molecular biology Chromosome Banding Phenotype Chromosomes Human Pair 6 Female Cleidocranial Dysplasia Chromosome 21 Chromosome 22 Fluorescence in situ hybridization |
| Zdroj: | European Journal of Medical Genetics. 54:e394-e398 |
| ISSN: | 1769-7212 |
| Popis: | Complex chromosome rearrangements (CCRs) are structural abnormalities involving >2 chromosomes or >3 breakpoints. It has been suggested that the probability of imbalance increases as the number of breakpoints increase. Here we report a 7-month-old, Hispanic girl presenting with cleidocranial dysplasia (CCD) who was found to have a complex chromosome rearrangement of chromosome 6. Fluorescence in situ hybridization studies with bacterial artificial chromosome (BAC) clones showed that the rearrangement involved insertion of 6q into 6p disrupting the "Runt related transcription factor 2 (RUNX2)" gene at chromosome 6p21.1. In addition, a pericentric inversion of chromosome 6 was identified. Despite the complex nature of the rearrangement, no cryptic deletions or duplications could be detected by array comparative genomic hybridization. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect